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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-44352365-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44352365&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GRN",
"hgnc_id": 4601,
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_002087.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.6365,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.26,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Neuronal ceroid lipofuscinosis 11,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9211974143981934,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_002087.4",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000053867.8",
"protein_coding": true,
"protein_id": "NP_002078.1",
"strand": true,
"transcript": "NM_002087.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000053867.8",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002087.4",
"protein_coding": true,
"protein_id": "ENSP00000053867.2",
"strand": true,
"transcript": "ENST00000053867.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2193,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000900927.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570986.1",
"strand": true,
"transcript": "ENST00000900927.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900929.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570988.1",
"strand": true,
"transcript": "ENST00000900929.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900931.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570990.1",
"strand": true,
"transcript": "ENST00000900931.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1515,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900932.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570991.1",
"strand": true,
"transcript": "ENST00000900932.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1721,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000918283.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588342.1",
"strand": true,
"transcript": "ENST00000918283.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2394,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000918285.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588344.1",
"strand": true,
"transcript": "ENST00000918285.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000918286.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588345.1",
"strand": true,
"transcript": "ENST00000918286.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000944506.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614565.1",
"strand": true,
"transcript": "ENST00000944506.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 593,
"aa_ref": "H",
"aa_start": 480,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2366,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1438,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000944507.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1438C>T",
"hgvs_p": "p.His480Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614566.1",
"strand": true,
"transcript": "ENST00000944507.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 577,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1390,
"consequences": [
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],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000900934.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1390C>T",
"hgvs_p": "p.His464Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570993.1",
"strand": true,
"transcript": "ENST00000900934.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1448,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1366,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000900928.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1366C>T",
"hgvs_p": "p.His456Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570987.1",
"strand": true,
"transcript": "ENST00000900928.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 568,
"aa_ref": "H",
"aa_start": 455,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2052,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 1707,
"cds_start": 1363,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000900935.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1363C>T",
"hgvs_p": "p.His455Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570994.1",
"strand": true,
"transcript": "ENST00000900935.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1367,
"cds_end": null,
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"cds_start": 1333,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000918287.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1333C>T",
"hgvs_p": "p.His445Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588346.1",
"strand": true,
"transcript": "ENST00000918287.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 556,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2213,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1671,
"cds_start": 1327,
"consequences": [
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],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000900926.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1327C>T",
"hgvs_p": "p.His443Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570985.1",
"strand": true,
"transcript": "ENST00000900926.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 511,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 1232,
"cds_end": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000900933.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1192C>T",
"hgvs_p": "p.His398Tyr",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570992.1",
"strand": true,
"transcript": "ENST00000900933.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cdna_start": 1160,
"cds_end": null,
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"cds_start": 1120,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000918284.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.1120C>T",
"hgvs_p": "p.His374Tyr",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000588343.1",
"strand": true,
"transcript": "ENST00000918284.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "H",
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 1338,
"cds_start": 994,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000944505.1",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.994C>T",
"hgvs_p": "p.His332Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614564.1",
"strand": true,
"transcript": "ENST00000944505.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 436,
"aa_ref": "H",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1632,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1311,
"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000589265.5",
"gene_hgnc_id": 4601,
"gene_symbol": "GRN",
"hgvs_c": "c.967C>T",
"hgvs_p": "p.His323Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467616.1",
"strand": true,
"transcript": "ENST00000589265.5",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 387,
"aa_ref": "H",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1557,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1164,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000586443.1",
"gene_hgnc_id": 4601,
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]
}